ID   CHDIi021-A
AC   CVCL_VC92
SY   #21C5; #21c5; CHDI-90002169
DR   BioSamples; SAMEA1088053
DR   EBiSC; CHDIi021-A
DR   ECACC; 66541156
DR   hPSCreg; CHDIi021-A
DR   Wikidata; Q54811787
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi021-A).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Discontinued: ECACC; 66541156; true.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   40-44Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 12
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